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Items: 1 to 20 of 105

1.

Congenital hypothyroidism in Young-Simpson syndrome.

Stagi S, Bindi G, Lapi E, Giovannucci-Uzielli ML, Salti R, Chiarelli F.

J Pediatr Endocrinol Metab. 2008 Nov;21(11):1089-92.

PMID:
19189705
2.

Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.

Radvanszky J, Hyblova M, Durovcikova D, Hikkelova M, Fiedler E, Kadasi L, Turna J, Minarik G, Szemes T.

Clin Genet. 2017 Feb;91(2):339-343. doi: 10.1111/cge.12840. Epub 2016 Sep 29.

PMID:
27452416
3.

A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome.

Marques-de-faria AP, Maciel-Guerra AT, Júnior GG, Baptista MT.

Clin Dysmorphol. 2000 Jul;9(3):199-204.

PMID:
10955481
4.

De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome.

Li G, Li N, Li J, Ding Y, Yu T, Wang X, Wang J.

Fetal Pediatr Pathol. 2017 Apr;36(2):130-138. doi: 10.1080/15513815.2017.1281364. Epub 2017 Feb 7.

PMID:
28426343
5.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G.

Am J Med Genet A. 2013 Apr;161A(4):884-8. doi: 10.1002/ajmg.a.35848. Epub 2013 Feb 22.

PMID:
23436491
7.

A Japanese boy with Young-Simpson syndrome.

Nakamura T, Noma S.

Acta Paediatr Jpn. 1997 Aug;39(4):472-4.

PMID:
9316295
8.
9.

Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome.

Merritt J, Hart JC, LeGrow TL.

BMJ Case Rep. 2017 Jul 14;2017. pii: bcr-2017-219930. doi: 10.1136/bcr-2017-219930.

PMID:
28710305
10.
11.

Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.

Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K, Kuroki Y.

Am J Med Genet. 1999 May 7;84(1):8-11.

PMID:
10213038
12.

Further delineation of the KAT6B molecular and phenotypic spectrum.

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J.

Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26.

13.

Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.

Zhou L, Wang T, Wang J.

Ophthalmic Plast Reconstr Surg. 2017 May/Jun;33(3S Suppl 1):S82-S84. doi: 10.1097/IOP.0000000000000708.

PMID:
27115209
14.

Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

Robinson DM, Meagher CC, Orlowski CC, Lagoe EC, Fong CT.

Am J Med Genet A. 2008 Jun 15;146A(12):1571-4. doi: 10.1002/ajmg.a.32096.

PMID:
18470891
15.
16.

Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging.

Szakszon K, Berényi E, Jakab A, Bessenyei B, Balogh E, Köbling T, Szilvássy J, Knegt AC, Oláh E.

Am J Med Genet A. 2011 Mar;155A(3):634-7. doi: 10.1002/ajmg.a.33837. Epub 2011 Feb 22.

PMID:
21344633
17.

[Anesthetic management of a patient with Young-Simpson syndrome].

Manaka S, Yamanaka I, Tateda T, Tajiri O.

Masui. 2002 Nov;51(11):1272-4. Japanese.

PMID:
12481459
18.

A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G.

Am J Med Genet A. 2015 Dec;167A(12):3006-10. doi: 10.1002/ajmg.a.37343. Epub 2015 Sep 3.

PMID:
26334766
19.

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Vlckova M, Simandlova M, Zimmermann P, Stranecky V, Hartmannova H, Hodanova K, Havlovicova M, Hancarova M, Kmoch S, Sedlacek Z.

Eur J Med Genet. 2015 Oct;58(10):550-5. doi: 10.1016/j.ejmg.2015.09.004. Epub 2015 Sep 11.

PMID:
26370006
20.

[Young-Simpson syndrome].

Masuno M.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):837-8. Review. Japanese. No abstract available.

PMID:
11529049

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